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Aliases for HSPD1 Gene

Aliases for HSPD1 Gene

  • Heat Shock Protein Family D (Hsp60) Member 1 2 3 5
  • Heat Shock 60kDa Protein 1 (Chaperonin) 2 3
  • Mitochondrial Matrix Protein P1 3 4
  • P60 Lymphocyte Protein 3 4
  • 60 KDa Chaperonin 3 4
  • Chaperonin 60 3 4
  • HuCHA60 3 4
  • HSP-60 3 4
  • HSP60 3 4
  • CPN60 3 4
  • Spastic Paraplegia 13 (Autosomal Dominant) 2
  • 60 KDa Heat Shock Protein, Mitochondrial 3
  • Heat Shock 60kD Protein 1 (Chaperonin) 2
  • Short Heat Shock Protein 60 Hsp60s1 3
  • Heat Shock Protein 65 3
  • Heat Shock Protein 60 4
  • GROEL 3
  • HSP65 3
  • SPG13 3
  • HLD4 3

External Ids for HSPD1 Gene

Previous HGNC Symbols for HSPD1 Gene

  • SPG13

Previous GeneCards Identifiers for HSPD1 Gene

  • GC12M056909
  • GC02M197063
  • GC02M198315
  • GC02M198553
  • GC02M198176
  • GC02M198059
  • GC02M190203

Summaries for HSPD1 Gene

Entrez Gene Summary for HSPD1 Gene

  • This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]

GeneCards Summary for HSPD1 Gene

HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1) is a Protein Coding gene. Diseases associated with HSPD1 include Leukodystrophy, Hypomyelinating, 4 and Spastic Paraplegia 13, Autosomal Dominant. Among its related pathways are Tuberculosis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include poly(A) RNA binding and ATPase activity.

UniProtKB/Swiss-Prot for HSPD1 Gene

  • Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.

Gene Wiki entry for HSPD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPD1 Gene

Genomics for HSPD1 Gene

Regulatory Elements for HSPD1 Gene

Enhancers for HSPD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HSPD1 on UCSC Golden Path with GeneCards custom track

Promoters for HSPD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for HSPD1 Gene

Chromosome:
2
Start:
197,486,581 bp from pter
End:
197,516,737 bp from pter
Size:
30,157 bases
Orientation:
Minus strand

Genomic View for HSPD1 Gene

Genes around HSPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPD1 Gene

Proteins for HSPD1 Gene

  • Protein details for HSPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10809-CH60_HUMAN
    Recommended name:
    60 kDa heat shock protein, mitochondrial
    Protein Accession:
    P10809
    Secondary Accessions:
    • B2R5M6
    • B7Z712
    • Q38L19
    • Q9UCR6

    Protein attributes for HSPD1 Gene

    Size:
    573 amino acids
    Molecular mass:
    61055 Da
    Quaternary structure:
    • Interacts with HRAS (By similarity). Interacts with HBV protein X and HTLV-1 protein p40tax. Interacts with ATAD3A. Interacts with ETFBKMT and METTL21B.

    Three dimensional structures from OCA and Proteopedia for HSPD1 Gene

    Alternative splice isoforms for HSPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPD1 Gene

Post-translational modifications for HSPD1 Gene

  • Ubiquitination at Lys 31, Lys 58, Lys 75, Lys 82, Lys 125, Lys 130, Lys 133, Lys 160, Lys 191, Lys 233, Lys 292, Lys 469, and Lys 481
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HSPD1 (HSP60)

No data available for DME Specific Peptides for HSPD1 Gene

Domains & Families for HSPD1 Gene

Gene Families for HSPD1 Gene

Graphical View of Domain Structure for InterPro Entry

P10809

UniProtKB/Swiss-Prot:

CH60_HUMAN :
  • Belongs to the chaperonin (HSP60) family.
Family:
  • Belongs to the chaperonin (HSP60) family.
genes like me logo Genes that share domains with HSPD1: view

Function for HSPD1 Gene

Molecular function for HSPD1 Gene

UniProtKB/Swiss-Prot Function:
Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.

Gene Ontology (GO) - Molecular Function for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 17164250
GO:0002020 protease binding IEA --
GO:0002039 p53 binding IPI 18086682
GO:0003688 DNA replication origin binding ISS --
GO:0003697 single-stranded DNA binding ISS --
genes like me logo Genes that share ontologies with HSPD1: view
genes like me logo Genes that share phenotypes with HSPD1: view

Human Phenotype Ontology for HSPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPD1 Gene

Localization for HSPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPD1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSPD1 Gene COMPARTMENTS Subcellular localization image for HSPD1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
endosome 4
endoplasmic reticulum 3
plasma membrane 3
chloroplast 2
cytoskeleton 2
golgi apparatus 2
nucleus 2
vacuole 1

Gene Ontology (GO) - Cellular Components for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 18229457
GO:0005737 cytoplasm IDA 21328542
GO:0005739 mitochondrion IDA 17823127
GO:0005743 mitochondrial inner membrane ISS --
GO:0005759 mitochondrial matrix TAS 17823127
genes like me logo Genes that share ontologies with HSPD1: view

Pathways & Interactions for HSPD1 Gene

genes like me logo Genes that share pathways with HSPD1: view

Pathways by source for HSPD1 Gene

Gene Ontology (GO) - Biological Process for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002236 detection of misfolded protein IEA --
GO:0002368 B cell cytokine production IDA 16148103
GO:0002755 MyD88-dependent toll-like receptor signaling pathway IDA 16148103
GO:0002842 positive regulation of T cell mediated immune response to tumor cell IDA 10663613
genes like me logo Genes that share ontologies with HSPD1: view

No data available for SIGNOR curated interactions for HSPD1 Gene

Drugs & Compounds for HSPD1 Gene

(44) Drugs for HSPD1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Geldanamycin Experimental Pharma Hsp90 inhibitor,potent and specific, Selective Hsp90 inhibitor 0
AT13387 Pharma Hsp90 inhibitor 0
BIIB021 Pharma Hsp90 inhibitor,selective and competitive 0
HSP990 (NVP-HSP990) Pharma 0
VER-50589 Pharma 0

(59) Additional Compounds for HSPD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) ApexBio Compounds for HSPD1 Gene

Compound Action Cas Number
AT13387 Hsp90 inhibitor 912999-49-6
BIIB021 Hsp90 inhibitor,selective and competitive 848695-25-0
Geldanamycin Hsp90 inhibitor,potent and specific 30562-34-6
HSP990 (NVP-HSP990) 934343-74-5
VER-50589 747413-08-7
genes like me logo Genes that share compounds with HSPD1: view

Transcripts for HSPD1 Gene

Unigene Clusters for HSPD1 Gene

Heat shock 60kDa protein 1 (chaperonin):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5: - - - -
SP6: - - -
SP7: - -
SP8: -
SP9: -
SP10:
SP11: -
SP12:

Relevant External Links for HSPD1 Gene

GeneLoc Exon Structure for
HSPD1
ECgene alternative splicing isoforms for
HSPD1

Expression for HSPD1 Gene

mRNA expression in normal human tissues for HSPD1 Gene

mRNA differential expression in normal tissues according to GTEx for HSPD1 Gene

This gene is overexpressed in Adrenal Gland (x5.3).

Protein differential expression in normal tissues from HIPED for HSPD1 Gene

This gene is overexpressed in Adrenal (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSPD1 Gene



Protein tissue co-expression partners for HSPD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPD1 Gene:

HSPD1

SOURCE GeneReport for Unigene cluster for HSPD1 Gene:

Hs.595053
genes like me logo Genes that share expression patterns with HSPD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HSPD1 Gene

Orthologs for HSPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSPD1 34
  • 93.29 (n)
  • 98.02 (a)
HSPD1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPD1 34
  • 93.6 (n)
  • 98.08 (a)
HSPD1 35
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hspd1 34
  • 90.71 (n)
  • 97.48 (a)
Hspd1 16
Hspd1 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSPD1 34
  • 99.94 (n)
  • 99.83 (a)
rat
(Rattus norvegicus)
Mammalia Hspd1 34
  • 91.19 (n)
  • 97.48 (a)
oppossum
(Monodelphis domestica)
Mammalia HSPD1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSPD1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPD1 34
  • 82.67 (n)
  • 94.24 (a)
HSPD1 35
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPD1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspd1 34
  • 77.84 (n)
  • 89.91 (a)
Str.2924 34
zebrafish
(Danio rerio)
Actinopterygii -- 34
hspd1 34
  • 74.47 (n)
  • 87.93 (a)
hspd1 35
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16954 36
  • 42 (a)
CG7235 36
  • 72 (a)
Hsp60 36
  • 73 (a)
Hsp60B 36
  • 58 (a)
Hsp60 34
  • 63.16 (n)
  • 74.46 (a)
Hsp60 35
  • 74 (a)
OneToMany
Hsp60B 35
  • 50 (a)
OneToMany
Hsp60C 35
  • 71 (a)
OneToMany
Hsp60D 35
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004002 34
  • 62.6 (n)
  • 74.5 (a)
worm
(Caenorhabditis elegans)
Secernentea hsp-60 34
  • 63.72 (n)
  • 71.82 (a)
hsp-60 35
  • 71 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR155W 34
  • 57.81 (n)
  • 58.06 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09449g 34
  • 59.31 (n)
  • 56.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSP60 34
  • 60.54 (n)
  • 57.6 (a)
HSP60 35
  • 55 (a)
OneToOne
HSP60 37
thale cress
(Arabidopsis thaliana)
eudicotyledons HSP60 34
  • 62.64 (n)
  • 59.52 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6802 34
soybean
(Glycine max)
eudicotyledons Gma.5022 34
barley
(Hordeum vulgare)
Liliopsida Hv.2992 34
rice
(Oryza sativa)
Liliopsida Os10g0462900 34
  • 61.68 (n)
  • 60.07 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4026 34
bread mold
(Neurospora crassa)
Ascomycetes NCU01589 34
  • 54.09 (n)
  • 58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcp60 34
  • 58.03 (n)
  • 55.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8912 35
  • 67 (a)
OneToOne
Species where no ortholog for HSPD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPD1 Gene

ENSEMBL:
Gene Tree for HSPD1 (if available)
TreeFam:
Gene Tree for HSPD1 (if available)

Paralogs for HSPD1 Gene

genes like me logo Genes that share paralogs with HSPD1: view

No data available for Paralogs for HSPD1 Gene

Variants for HSPD1 Gene

Sequence variations from dbSNP and Humsavar for HSPD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs66468541 Spastic paraplegia 13, autosomal dominant (SPG13) 197,497,275(-) AACTT(A/G)TTCAA reference, missense
VAR_054785 Leukodystrophy, hypomyelinating, 4 (HLD4)
rs1057448 -- 197,495,726(-) gtccc(A/G)gctac intron-variant
rs1135398 -- 197,495,709(-) ggctg(A/G)ggtgg intron-variant
rs955 -- 197,486,851(-) GCCTA(C/T)AGATA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HSPD1 Gene

Variant ID Type Subtype PubMed ID
nsv1014881 CNV gain 25217958
nsv1114161 CNV deletion 24896259
nsv963757 CNV duplication 23825009
nsv979161 CNV duplication 23825009

Variation tolerance for HSPD1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSPD1 Gene

Human Gene Mutation Database (HGMD)
HSPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPD1 Gene

Disorders for HSPD1 Gene

MalaCards: The human disease database

(42) MalaCards diseases for HSPD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 4
  • leukodystrophy, hypomyelinating 4
spastic paraplegia 13, autosomal dominant
  • spg13
spastic paraplegia 13
  • spastic paraplegia 13, autosomal dominant
salpingitis
mycobacterium fortuitum
  • m. fortuitum
- elite association - COSMIC cancer census association via MalaCards
Search HSPD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CH60_HUMAN
  • Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life. {ECO:0000269 PubMed:18571143}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:11898127}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSPD1

Genetic Association Database (GAD)
HSPD1
Human Genome Epidemiology (HuGE) Navigator
HSPD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPD1
genes like me logo Genes that share disorders with HSPD1: view

No data available for Genatlas for HSPD1 Gene

Publications for HSPD1 Gene

  1. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (PMID: 11898127) Hansen J.J. … Bross P. (Am. J. Hum. Genet. 2002) 2 3 4 65
  2. Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families. (PMID: 1980192) Venner T.J. … Gupta R.S. (DNA Cell Biol. 1990) 2 3 4 65
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P. … Coulombe B. (PLoS Genet. 2013) 3 4 65
  4. Hsp60 is actively secreted by human tumor cells. (PMID: 20169074) Merendino A.M. … Cappello F. (PLoS ONE 2010) 3 22 65
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65

Products for HSPD1 Gene

Sources for HSPD1 Gene

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